Gene Symbol | SETD2 |
Entrez Gene ID | 29072 |
Full Name | SET domain containing 2 |
Synonyms | HBP231,HIF-1,HIP-1,HSPC069,HYPB,KMT3A,LLS,SET2,p231HBP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]. |
Disorder MIM: | |
Disorder Html: | Luscan-Lumish syndrome, 616831 (3) |